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Titolo:
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
Autore:
Tayebi, N; Callahan, M; Madike, V; Stubblefield, BK; Orvisky, E; Krasnewich, D; Fillano, JJ; Sidransky, E;
Indirizzi:
NIMH, Clin Neurosci Branch, Bethesda, MD 20892 USA NIMH Bethesda MD USA 20892 , Clin Neurosci Branch, Bethesda, MD 20892 USA Childrens Hosp Dartmouth, Dept Pediat, Lebanon, NH 03756 USA Childrens Hosp Dartmouth Lebanon NH USA 03756 diat, Lebanon, NH 03756 USA
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 4, volume: 73, anno: 2001,
pagine: 313 - 321
SICI:
1096-7192(200108)73:4<313:GDAPAP>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
SIMPLE MENDELIAN DISORDERS; GLUCOCEREBROSIDASE LOCUS; REPLACEMENT THERAPY; COMPLEX TRAITS; FUSION GENE; MUTATIONS; METAXIN; TYPE-1; DEFICIENCY; PSEUDOGENE;
Keywords:
Gaucher disease; parkinsonism; metaxin gene; glucocerebrosidase gene; gene duplication; genotype/phenotype correlation; pseudogene; recombination;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Sidransky, E NIMH, Clin Neurosci Branch, 49 Convent Dr MSC405,49 B1EE16, Bethesda, MD 20892 USA NIMH 49 Convent Dr MSC405,49 B1EE16 Bethesda MD USA 20892 USA
Citazione:
N. Tayebi et al., "Gaucher disease and parkinsonism: A phenotypic and genotypic characterization", MOL GEN MET, 73(4), 2001, pp. 313-321

Abstract

Among the many phenotypes associated with Gaucher disease, the inherited deficiency of glucocerebrosidase, are reports of patients with parkinsonian symptoms. The basis for this association is unknown, but could be due to alterations in the gene or gene region. The human glucocerebrosidase gene, located on chromosome 1q21, has a nearby pseudogene that shares 96% identity. Immediately adjacent to the glucocerebrosidase pseudogene is a convergently transcribed gene, metaxin, which has a pseudogene that is located just downstream to the glucocerebrosidase gene. We describe a patient with mild Gaucher disease but impaired horizontal saccadic eye movements who developed a tremor at age 42, followed by rapid deterioration of her gait. A pallidotomy at age 47 was unsuccessful. Her motor and cognitive deterioration progressed despite enzyme replacement therapy. Sequencing of the glucocerebrosidase gene identified mutations L444P and D409H. Southern blot analysis usingthe enzyme SspI showed that the maternal allele had an additional 17-kb band. PCR amplifications and sequencing of this fragment demonstrated a duplication which included the glucocerebrosidase pseudogene, metaxin gene, and a pseudometaxin/metaxin fusion. Gene alterations associated with this novelrearrangement, resulting from a crossover between the gene for metaxin andits pseudogene, could contribute to the atypical phenotype encountered in this patient. (C) 2001 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 18:37:40